183 related articles for article (PubMed ID: 34120413)
1. Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.
Bissonnette P; Lussier Y; Matar J; Leduc-Nadeau A; Da Cal S; Arthus MF; Unwin RJ; Steinke J; Rangaswamy D; Bichet DG
Physiol Rep; 2021 Jun; 9(11):e14866. PubMed ID: 34120413
[TBL] [Abstract][Full Text] [Related]
2. New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
Leduc-Nadeau A; Lussier Y; Arthus MF; Lonergan M; Martinez-Aguayo A; Riveira-Munoz E; Devuyst O; Bissonnette P; Bichet DG
J Physiol; 2010 Jun; 588(Pt 12):2205-18. PubMed ID: 20403973
[TBL] [Abstract][Full Text] [Related]
3. Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.
El Tarazi A; Lussier Y; Da Cal S; Bissonnette P; Bichet DG
Sci Rep; 2016 Sep; 6():33298. PubMed ID: 27641679
[TBL] [Abstract][Full Text] [Related]
4. A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
de Mattia F; Savelkoul PJ; Bichet DG; Kamsteeg EJ; Konings IB; Marr N; Arthus MF; Lonergan M; van Os CH; van der Sluijs P; Robertson G; Deen PM
Hum Mol Genet; 2004 Dec; 13(24):3045-56. PubMed ID: 15509592
[TBL] [Abstract][Full Text] [Related]
5. p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.
Savelkoul PJ; De Mattia F; Li Y; Kamsteeg EJ; Konings IB; van der Sluijs P; Deen PM
Hum Mutat; 2009 Oct; 30(10):E891-903. PubMed ID: 19585583
[TBL] [Abstract][Full Text] [Related]
6. Cell-biologic and functional analyses of five new Aquaporin-2 missense mutations that cause recessive nephrogenic diabetes insipidus.
Marr N; Bichet DG; Hoefs S; Savelkoul PJ; Konings IB; De Mattia F; Graat MP; Arthus MF; Lonergan M; Fujiwara TM; Knoers NV; Landau D; Balfe WJ; Oksche A; Rosenthal W; Müller D; Van Os CH; Deen PM
J Am Soc Nephrol; 2002 Sep; 13(9):2267-77. PubMed ID: 12191971
[TBL] [Abstract][Full Text] [Related]
7. Characterization of D150E and G196D aquaporin-2 mutations responsible for nephrogenic diabetes insipidus: importance of a mild phenotype.
Guyon C; Lussier Y; Bissonnette P; Leduc-Nadeau A; Lonergan M; Arthus MF; Perez RB; Tiulpakov A; Lapointe JY; Bichet DG
Am J Physiol Renal Physiol; 2009 Aug; 297(2):F489-98. PubMed ID: 19458121
[TBL] [Abstract][Full Text] [Related]
8. An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus.
Kamsteeg EJ; Wormhoudt TA; Rijss JP; van Os CH; Deen PM
EMBO J; 1999 May; 18(9):2394-400. PubMed ID: 10228154
[TBL] [Abstract][Full Text] [Related]
9. Three families with autosomal dominant nephrogenic diabetes insipidus caused by aquaporin-2 mutations in the C-terminus.
Kuwahara M; Iwai K; Ooeda T; Igarashi T; Ogawa E; Katsushima Y; Shinbo I; Uchida S; Terada Y; Arthus MF; Lonergan M; Fujiwara TM; Bichet DG; Marumo F; Sasaki S
Am J Hum Genet; 2001 Oct; 69(4):738-48. PubMed ID: 11536078
[TBL] [Abstract][Full Text] [Related]
10. Molecular characterization of an aquaporin-2 mutation causing a severe form of nephrogenic diabetes insipidus.
Saglar Ozer E; Moeller HB; Karaduman T; Fenton RA; Mergen H
Cell Mol Life Sci; 2020 Mar; 77(5):953-962. PubMed ID: 31302751
[TBL] [Abstract][Full Text] [Related]
11. Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
de Mattia F; Savelkoul PJ; Kamsteeg EJ; Konings IB; van der Sluijs P; Mallmann R; Oksche A; Deen PM
J Am Soc Nephrol; 2005 Oct; 16(10):2872-80. PubMed ID: 16120822
[TBL] [Abstract][Full Text] [Related]
12. Novel
Li Q; Tian D; Cen J; Duan L; Xia W
Front Endocrinol (Lausanne); 2021; 12():686818. PubMed ID: 34177810
[TBL] [Abstract][Full Text] [Related]
13. Importance of aquaporin-2 expression levels in genotype -phenotype studies in nephrogenic diabetes insipidus.
Kamsteeg EJ; Deen PM
Am J Physiol Renal Physiol; 2000 Oct; 279(4):F778-84. PubMed ID: 10997928
[TBL] [Abstract][Full Text] [Related]
14. Hereditary nephrogenic diabetes insipidus in Japanese patients: analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2.
Sasaki S; Chiga M; Kikuchi E; Rai T; Uchida S
Clin Exp Nephrol; 2013 Jun; 17(3):338-44. PubMed ID: 23150186
[TBL] [Abstract][Full Text] [Related]
15. Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).
Bichet DG; Bockenhauer D
Best Pract Res Clin Endocrinol Metab; 2016 Mar; 30(2):263-76. PubMed ID: 27156763
[TBL] [Abstract][Full Text] [Related]
16. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study.
García Castaño A; Pérez de Nanclares G; Madariaga L; Aguirre M; Chocron S; Madrid A; Lafita Tejedor FJ; Gil Campos M; Sánchez Del Pozo J; Ruiz Cano R; Espino M; Gomez Vida JM; Santos F; García Nieto VM; Loza R; Rodríguez LM; Hidalgo Barquero E; Printza N; Camacho JA; Castaño L; Ariceta G;
Eur J Pediatr; 2015 Oct; 174(10):1373-85. PubMed ID: 25902753
[TBL] [Abstract][Full Text] [Related]
17. New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels.
Mulders SM; Knoers NV; Van Lieburg AF; Monnens LA; Leumann E; Wühl E; Schober E; Rijss JP; Van Os CH; Deen PM
J Am Soc Nephrol; 1997 Feb; 8(2):242-8. PubMed ID: 9048343
[TBL] [Abstract][Full Text] [Related]
18. AQP2: Mutations Associated with Congenital Nephrogenic Diabetes Insipidus and Regulation by Post-Translational Modifications and Protein-Protein Interactions.
Gao C; Higgins PJ; Zhang W
Cells; 2020 Sep; 9(10):. PubMed ID: 32993088
[TBL] [Abstract][Full Text] [Related]
19. Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus.
Marr N; Bichet DG; Lonergan M; Arthus MF; Jeck N; Seyberth HW; Rosenthal W; van Os CH; Oksche A; Deen PM
Hum Mol Genet; 2002 Apr; 11(7):779-89. PubMed ID: 11929850
[TBL] [Abstract][Full Text] [Related]
20. An aquaporin-2 water channel mutant which causes autosomal dominant nephrogenic diabetes insipidus is retained in the Golgi complex.
Mulders SM; Bichet DG; Rijss JP; Kamsteeg EJ; Arthus MF; Lonergan M; Fujiwara M; Morgan K; Leijendekker R; van der Sluijs P; van Os CH; Deen PM
J Clin Invest; 1998 Jul; 102(1):57-66. PubMed ID: 9649557
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]